TY - JOUR

T1 - The diploid genome sequence of an Asian individual

AU - Wang, Jun

AU - Wang, Wei

AU - Li, Ruiqiang

AU - Li, Yingrui

AU - Tian, Geng

AU - Goodman, Laurie

AU - Fan, Wei

AU - Zhang, Junqing

AU - Li, Jun

AU - Zhang, Juanbin

AU - Guo, Yiran

AU - Feng, Binxiao

AU - Li, Heng

AU - Lu, Yao

AU - Fang, Xiaodong

AU - Liang, Huiqing

AU - Du, Zhenglin

AU - Li, Dong

AU - Zhao, Yiqing

AU - Hu, Yujie

AU - Yang, Zhenzhen

AU - Zheng, Hancheng

AU - Hellmann, Ines

AU - Inouye, Michael

AU - Pool, John

AU - Yi, Xin

AU - Zhao, Jing

AU - Duan, Jinjie

AU - Zhou, Yan

AU - Qin, Junjie

AU - Ma, Lijia

AU - Li, Guoqing

AU - Yang, Zhentao

AU - Zhang, Guojie

AU - Yang, Bin

AU - Yu, Chang

AU - Liang, Fang

AU - Li, Wenjie

AU - Li, Shaochuan

AU - Li, Dawei

AU - Ni, Peixiang

AU - Ruan, Jue

AU - Li, Qibin

AU - Zhu, Hongmei

AU - Liu, Dongyuan

AU - Lu, Zhike

AU - Li, Ning

AU - Guo, Guangwu

AU - Zhang, Jianguo

AU - Ye, Jia

AU - Fang, Lin

AU - Hao, Qin

AU - Chen, Quan

AU - Liang, Yu

AU - Su, Yeyang

AU - San, A

AU - Ping, Cuo

AU - Yang, Shuang

AU - Chen, Fang

AU - Li, Li

AU - Zhou, Ke

AU - Zheng, Hongkun

AU - Ren, Yuanyuan

AU - Yang, Ling

AU - Gao, Yang

AU - Yang, Guohua

AU - Li, Zhuo

AU - Feng, Xiaoli

AU - Kristiansen, Karsten

AU - Wong, Gane Ka-Shu

AU - Nielsen, Rasmus

AU - Durbin, Richard

AU - Bolund, Lars

AU - Zhang, Xiuqing

AU - Li, Songgang

AU - Yang, Huanming

AU - Wang, Jian

PY - 2008

Y1 - 2008

N2 - Here we present the first diploid genome sequence of an Asian individual. The genome was sequenced to 36-fold average coverage using massively parallel sequencing technology. We aligned the short reads onto the NCBI human reference genome to 99.97% coverage, and guided by the reference genome, we used uniquely mapped reads to assemble a high-quality consensus sequence for 92% of the Asian individual's genome. We identified approximately 3 million single-nucleotide polymorphisms (SNPs) inside this region, of which 13.6% were not in the dbSNP database. Genotyping analysis showed that SNP identification had high accuracy and consistency, indicating the high sequence quality of this assembly. We also carried out heterozygote phasing and haplotype prediction against HapMap CHB and JPT haplotypes (Chinese and Japanese, respectively), sequence comparison with the two available individual genomes (J. D. Watson and J. C. Venter), and structural variation identification. These variations were considered for their potential biological impact. Our sequence data and analyses demonstrate the potential usefulness of next-generation sequencing technologies for personal genomics.

AB - Here we present the first diploid genome sequence of an Asian individual. The genome was sequenced to 36-fold average coverage using massively parallel sequencing technology. We aligned the short reads onto the NCBI human reference genome to 99.97% coverage, and guided by the reference genome, we used uniquely mapped reads to assemble a high-quality consensus sequence for 92% of the Asian individual's genome. We identified approximately 3 million single-nucleotide polymorphisms (SNPs) inside this region, of which 13.6% were not in the dbSNP database. Genotyping analysis showed that SNP identification had high accuracy and consistency, indicating the high sequence quality of this assembly. We also carried out heterozygote phasing and haplotype prediction against HapMap CHB and JPT haplotypes (Chinese and Japanese, respectively), sequence comparison with the two available individual genomes (J. D. Watson and J. C. Venter), and structural variation identification. These variations were considered for their potential biological impact. Our sequence data and analyses demonstrate the potential usefulness of next-generation sequencing technologies for personal genomics.

U2 - 10.1038/nature07484

DO - 10.1038/nature07484

M3 - Journal article

C2 - 18987735

VL - 456

SP - 60

EP - 65

JO - Nature

JF - Nature

SN - 0028-0836

IS - 7218

ER -